Canonical Allele Identifier: CA363616661

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164467-A-G
• MyVariant Identifiers: chr6:g.33132244A>G (hg19) ; chr6:g.33164467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164467A>G , CM000668.2:g.33164467A>G	GRCh38
NC_000006.11:g.33132244A>G , CM000668.1:g.33132244A>G	GRCh37
NC_000006.10:g.33240222A>G	NCBI36
NG_011589.1:g.33002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.676T>C
ENST00000341947.7:c.4870T>C MANE Select	ENSP00000339915.2:p.Tyr1624His
ENST00000341947.6:c.4870T>C	ENSP00000339915.2:p.Tyr1624His
ENST00000361917.5:c.4549T>C	ENSP00000355123.1:p.Tyr1517His
ENST00000374708.8:c.4612T>C	ENSP00000363840.4:p.Tyr1538His
ENST00000477772.1:n.660T>C
NM_080679.2:c.4549T>C	NP_542410.2:p.Tyr1517His
NM_080680.2:c.4870T>C	NP_542411.2:p.Tyr1624His
NM_080681.2:c.4612T>C	NP_542412.2:p.Tyr1538His
XM_011514298.1:c.4024T>C	XP_011512600.1:p.Tyr1342His
XM_011514299.1:c.4156T>C	XP_011512601.1:p.Tyr1386His
XM_011514300.1:c.3976T>C	XP_011512602.1:p.Tyr1326His
XM_011514301.1:c.3913T>C	XP_011512603.1:p.Tyr1305His
XM_011514302.1:c.3757T>C	XP_011512604.1:p.Tyr1253His
XM_011514299.2:c.4156T>C	XP_011512601.1:p.Tyr1386His
XM_011514300.2:c.3976T>C	XP_011512602.1:p.Tyr1326His
XM_011514302.2:c.3757T>C	XP_011512604.1:p.Tyr1253His
XM_017010250.1:c.4870T>C	XP_016865739.1:p.Tyr1624His
XM_017010251.2:c.3688T>C	XP_016865740.1:p.Tyr1230His
NM_080680.3:c.4870T>C MANE Select	NP_542411.2:p.Tyr1624His
NM_080681.3:c.4612T>C	NP_542412.2:p.Tyr1538His
NM_080679.3:c.4549T>C	NP_542410.2:p.Tyr1517His