Canonical Allele Identifier: CA449867021

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1610778
• ClinVar RCV Id: RCV002145530
• dbSNP Id: rs1433307223
• gnomAD v2: 6-33132179-G-A
• gnomAD v4: 6-33164402-G-A
• MyVariant Identifiers: chr6:g.33132179G>A (hg19) ; chr6:g.33164402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164402G>A , CM000668.2:g.33164402G>A	GRCh38
NC_000006.11:g.33132179G>A , CM000668.1:g.33132179G>A	GRCh37
NC_000006.10:g.33240157G>A	NCBI36
NG_011589.1:g.33067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.741C>T
ENST00000341947.7:c.4935C>T MANE Select	ENSP00000339915.2:p.Val1645=
ENST00000341947.6:c.4935C>T	ENSP00000339915.2:p.Val1645=
ENST00000361917.5:c.4614C>T	ENSP00000355123.1:p.Val1538=
ENST00000374708.8:c.4677C>T	ENSP00000363840.4:p.Val1559=
ENST00000477772.1:n.725C>T
NM_080679.2:c.4614C>T	NP_542410.2:p.Val1538=
NM_080680.2:c.4935C>T	NP_542411.2:p.Val1645=
NM_080681.2:c.4677C>T	NP_542412.2:p.Val1559=
XM_011514298.1:c.4089C>T	XP_011512600.1:p.Val1363=
XM_011514299.1:c.4221C>T	XP_011512601.1:p.Val1407=
XM_011514300.1:c.4041C>T	XP_011512602.1:p.Val1347=
XM_011514301.1:c.3978C>T	XP_011512603.1:p.Val1326=
XM_011514302.1:c.3822C>T	XP_011512604.1:p.Val1274=
XM_011514299.2:c.4221C>T	XP_011512601.1:p.Val1407=
XM_011514300.2:c.4041C>T	XP_011512602.1:p.Val1347=
XM_011514302.2:c.3822C>T	XP_011512604.1:p.Val1274=
XM_017010250.1:c.4935C>T	XP_016865739.1:p.Val1645=
XM_017010251.2:c.3753C>T	XP_016865740.1:p.Val1251=
NM_080680.3:c.4935C>T MANE Select	NP_542411.2:p.Val1645=
NM_080681.3:c.4677C>T	NP_542412.2:p.Val1559=
NM_080679.3:c.4614C>T	NP_542410.2:p.Val1538=