Canonical Allele Identifier: CA363617677

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164926-C-A
• MyVariant Identifiers: chr6:g.33132703C>A (hg19) ; chr6:g.33164926C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164926C>A , CM000668.2:g.33164926C>A	GRCh38
NC_000006.11:g.33132703C>A , CM000668.1:g.33132703C>A	GRCh37
NC_000006.10:g.33240681C>A	NCBI36
NG_011589.1:g.32543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.595G>T
ENST00000341947.7:c.4789G>T MANE Select	ENSP00000339915.2:p.Asp1597Tyr
ENST00000341947.6:c.4789G>T	ENSP00000339915.2:p.Asp1597Tyr
ENST00000361917.5:c.4468G>T	ENSP00000355123.1:p.Asp1490Tyr
ENST00000374708.8:c.4531G>T	ENSP00000363840.4:p.Asp1511Tyr
ENST00000477772.1:n.579G>T
NM_080679.2:c.4468G>T	NP_542410.2:p.Asp1490Tyr
NM_080680.2:c.4789G>T	NP_542411.2:p.Asp1597Tyr
NM_080681.2:c.4531G>T	NP_542412.2:p.Asp1511Tyr
XM_011514298.1:c.3943G>T	XP_011512600.1:p.Asp1315Tyr
XM_011514299.1:c.4075G>T	XP_011512601.1:p.Asp1359Tyr
XM_011514300.1:c.3895G>T	XP_011512602.1:p.Asp1299Tyr
XM_011514301.1:c.3832G>T	XP_011512603.1:p.Asp1278Tyr
XM_011514302.1:c.3676G>T	XP_011512604.1:p.Asp1226Tyr
XM_011514299.2:c.4075G>T	XP_011512601.1:p.Asp1359Tyr
XM_011514300.2:c.3895G>T	XP_011512602.1:p.Asp1299Tyr
XM_011514302.2:c.3676G>T	XP_011512604.1:p.Asp1226Tyr
XM_017010250.1:c.4789G>T	XP_016865739.1:p.Asp1597Tyr
XM_017010251.2:c.3607G>T	XP_016865740.1:p.Asp1203Tyr
NM_080680.3:c.4789G>T MANE Select	NP_542411.2:p.Asp1597Tyr
NM_080681.3:c.4531G>T	NP_542412.2:p.Asp1511Tyr
NM_080679.3:c.4468G>T	NP_542410.2:p.Asp1490Tyr