Canonical Allele Identifier: CA487324446

Gene: POMT2

Linked Data

• gnomAD v4: 14-77286750-A-G
• MyVariant Identifiers: chr14:g.77753093A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286750A>G , CM000676.2:g.77286750A>G	GRCh38
NC_000014.8:g.77753093A>G , CM000676.1:g.77753093A>G	GRCh37
NC_000014.7:g.76822846A>G	NCBI36
NG_008897.1:g.39133T>C , LRG_844:g.39133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.867T>C	ENSP00000451967.2:p.Tyr289=
ENST00000682247.1:c.1326T>C	ENSP00000507213.1:p.Tyr442=
ENST00000682382.1:c.898T>C
ENST00000682395.1:n.1504T>C
ENST00000682459.1:n.1029T>C
ENST00000682467.1:c.1326T>C	ENSP00000508062.1:p.Tyr442=
ENST00000682706.1:n.103T>C
ENST00000682795.1:c.1326T>C	ENSP00000507574.1:p.Tyr442=
ENST00000682895.1:n.1042T>C
ENST00000682955.1:n.614T>C
ENST00000683188.1:c.1301T>C
ENST00000683328.1:c.319T>C	ENSP00000508096.1:n.319T>C
ENST00000683380.1:n.990T>C
ENST00000683828.1:c.1035T>C
ENST00000684259.1:n.1177T>C
ENST00000684444.1:c.73T>C
ENST00000684549.1:n.877T>C
ENST00000261534.9:c.1326T>C MANE Select	ENSP00000261534.4:p.Tyr442=
ENST00000261534.8:c.1326T>C	ENSP00000261534.4:p.Tyr442=
ENST00000452340.7:n.1349T>C
ENST00000553880.5:n.197T>C
ENST00000554767.5:n.2112T>C
ENST00000554884.5:n.318T>C
ENST00000556404.1:n.460T>C
ENST00000556851.1:n.362T>C
ENST00000557675.5:n.416T>C
NM_013382.5:c.1326T>C , LRG_844t1:c.1326T>C	NP_037514.2:p.Tyr442=
XM_011536675.1:c.1326T>C	XP_011534977.1:p.Tyr442=
XM_011536676.1:c.993T>C	XP_011534978.1:p.Tyr331=
XM_011536677.1:c.867T>C	XP_011534979.1:p.Tyr289=
XM_011536678.1:c.1326T>C	XP_011534980.1:p.Tyr442=
XM_011536679.1:c.420T>C	XP_011534981.1:p.Tyr140=
XR_943416.1:n.1529T>C
XM_011536675.2:c.1326T>C	XP_011534977.1:p.Tyr442=
XM_011536676.2:c.993T>C	XP_011534978.1:p.Tyr331=
XM_011536677.3:c.867T>C	XP_011534979.1:p.Tyr289=
XR_001750279.1:n.1526T>C
XR_001750282.1:n.1979T>C
XR_943416.3:n.1527T>C
NM_013382.6:c.1326T>C	NP_037514.2:p.Tyr442=
NM_013382.7:c.1326T>C MANE Select	NP_037514.2:p.Tyr442=