Canonical Allele Identifier: CA081544

Gene: AMZ2

Linked Data

• ClinVar Variation Id: 222960
• ClinVar RCV Id: RCV000208565
• dbSNP Id: rs782698957
• MyVariant Identifiers: chr17:g.66247254C>A (hg19) ; chr17:g.68251113C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68251113C>A , CM000679.2:g.68251113C>A	GRCh38
NC_000017.10:g.66247254C>A , CM000679.1:g.66247254C>A	GRCh37
NC_000017.9:g.63758849C>A	NCBI36
NG_051827.1:g.49985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359904.8:c.521C>A MANE Select	ENSP00000352976.3:p.Thr174Lys
ENST00000674770.2:c.521C>A	ENSP00000501934.1:p.Thr174Lys
ENST00000359783.8:c.347C>A	ENSP00000352831.4:p.Thr116Lys
ENST00000359904.7:c.521C>A	ENSP00000352976.3:p.Thr174Lys
ENST00000392720.6:c.521C>A	ENSP00000376481.2:p.Thr174Lys
ENST00000577273.1:c.521C>A	ENSP00000462140.1:p.Thr174Lys
ENST00000577866.5:c.521C>A	ENSP00000464133.1:p.Thr174Lys
ENST00000577985.5:c.521C>A	ENSP00000464635.1:p.Thr174Lys
ENST00000578175.5:n.1871C>A
ENST00000579724.5:c.521C>A	ENSP00000463596.1:p.Thr174Lys
ENST00000580548.5:c.521C>A	ENSP00000462484.1:p.Thr174Lys
ENST00000580753.5:c.521C>A	ENSP00000463012.1:p.Thr174Lys
ENST00000580837.5:c.521C>A	ENSP00000462292.1:p.Thr174Lys
ENST00000584350.1:c.99C>A	ENSP00000463857.1:n.99C>A
ENST00000584494.5:c.521C>A	ENSP00000461935.1:p.Thr174Lys
ENST00000584836.5:c.436C>A
ENST00000584837.5:c.437C>A	ENSP00000463053.1:p.Thr146Lys
ENST00000585050.5:n.606C>A
ENST00000612294.4:c.521C>A	ENSP00000483162.1:p.Thr174Lys
NM_001033569.1:c.521C>A	NP_001028741.1:p.Thr174Lys
NM_001033570.1:c.521C>A	NP_001028742.1:p.Thr174Lys
NM_001033571.1:c.521C>A	NP_001028743.1:p.Thr174Lys
NM_001033572.1:c.521C>A	NP_001028744.1:p.Thr174Lys
NM_001033574.1:c.347C>A	NP_001028746.1:p.Thr116Lys
NM_001289054.1:c.521C>A	NP_001275983.1:p.Thr174Lys
NM_001289056.1:c.521C>A	NP_001275985.1:p.Thr174Lys
NM_016627.4:c.521C>A	NP_057711.3:p.Thr174Lys
XM_005257432.3:c.713C>A	XP_005257489.1:p.Thr238Lys
XM_005257433.3:c.521C>A	XP_005257490.1:p.Thr174Lys
XM_005257435.3:c.521C>A	XP_005257492.1:p.Thr174Lys
XM_005257436.2:c.521C>A	XP_005257493.1:p.Thr174Lys
XM_005257437.2:c.521C>A	XP_005257494.1:p.Thr174Lys
XM_005257438.3:c.713C>A	XP_005257495.1:p.Thr238Lys
XM_006721940.2:c.419C>A	XP_006722003.1:p.Thr140Lys
NM_001346471.1:c.521C>A	NP_001333400.1:p.Thr174Lys
NM_001346472.1:c.521C>A	NP_001333401.1:p.Thr174Lys
NM_001346473.1:c.521C>A	NP_001333402.1:p.Thr174Lys
NM_001346474.1:c.521C>A	NP_001333403.1:p.Thr174Lys
NM_001346475.1:c.521C>A	NP_001333404.1:p.Thr174Lys
NM_001346476.1:c.521C>A	NP_001333405.1:p.Thr174Lys
NM_001346477.1:c.521C>A	NP_001333406.1:p.Thr174Lys
NM_001346478.1:c.521C>A	NP_001333407.1:p.Thr174Lys
NM_001346479.1:c.521C>A	NP_001333408.1:p.Thr174Lys
NM_001346480.1:c.347C>A	NP_001333409.1:p.Thr116Lys
NM_001346481.1:c.419C>A	NP_001333410.1:p.Thr140Lys
NM_001346482.1:c.419C>A	NP_001333411.1:p.Thr140Lys
NM_001346483.1:c.419C>A	NP_001333412.1:p.Thr140Lys
NM_001346484.1:c.419C>A	NP_001333413.1:p.Thr140Lys
NM_001346485.1:c.353C>A	NP_001333414.1:p.Thr118Lys
NR_144442.1:n.1223C>A
NR_144443.1:n.1233C>A
XM_005257432.4:c.713C>A	XP_005257489.1:p.Thr238Lys
XM_024450786.1:c.521C>A	XP_024306554.1:p.Thr174Lys
XM_024450787.1:c.521C>A	XP_024306555.1:p.Thr174Lys
XM_024450788.1:c.521C>A	XP_024306556.1:p.Thr174Lys
XM_024450789.1:c.419C>A	XP_024306557.1:p.Thr140Lys
XM_024450790.1:c.419C>A	XP_024306558.1:p.Thr140Lys
NM_016627.5:c.521C>A MANE Select	NP_057711.3:p.Thr174Lys
NM_001033569.2:c.521C>A	NP_001028741.1:p.Thr174Lys
NM_001033570.2:c.521C>A	NP_001028742.1:p.Thr174Lys
NM_001033574.2:c.347C>A	NP_001028746.1:p.Thr116Lys
NM_001289054.2:c.521C>A	NP_001275983.1:p.Thr174Lys
NM_001289056.2:c.521C>A	NP_001275985.1:p.Thr174Lys
NM_001346474.2:c.521C>A	NP_001333403.1:p.Thr174Lys
NM_001346475.2:c.521C>A	NP_001333404.1:p.Thr174Lys
NM_001346476.2:c.521C>A	NP_001333405.1:p.Thr174Lys
NM_001346477.2:c.521C>A	NP_001333406.1:p.Thr174Lys
NM_001346478.2:c.521C>A	NP_001333407.1:p.Thr174Lys
NM_001346479.2:c.521C>A	NP_001333408.1:p.Thr174Lys
NM_001346483.2:c.419C>A	NP_001333412.1:p.Thr140Lys
NM_001346484.2:c.419C>A	NP_001333413.1:p.Thr140Lys
NM_001346485.2:c.353C>A	NP_001333414.1:p.Thr118Lys
NR_144442.2:n.1184C>A
NR_144443.2:n.1194C>A