Canonical Allele Identifier: CA363616618

Gene: COL11A2

Linked Data

• dbSNP Id: rs1768793363
• gnomAD v3: 6-33164460-T-G
• gnomAD v4: 6-33164460-T-G
• MyVariant Identifiers: chr6:g.33132237T>G (hg19) ; chr6:g.33164460T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164460T>G , CM000668.2:g.33164460T>G	GRCh38
NC_000006.11:g.33132237T>G , CM000668.1:g.33132237T>G	GRCh37
NC_000006.10:g.33240215T>G	NCBI36
NG_011589.1:g.33009A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.683A>C
ENST00000341947.7:c.4877A>C MANE Select	ENSP00000339915.2:p.Asp1626Ala
ENST00000341947.6:c.4877A>C	ENSP00000339915.2:p.Asp1626Ala
ENST00000361917.5:c.4556A>C	ENSP00000355123.1:p.Asp1519Ala
ENST00000374708.8:c.4619A>C	ENSP00000363840.4:p.Asp1540Ala
ENST00000477772.1:n.667A>C
NM_080679.2:c.4556A>C	NP_542410.2:p.Asp1519Ala
NM_080680.2:c.4877A>C	NP_542411.2:p.Asp1626Ala
NM_080681.2:c.4619A>C	NP_542412.2:p.Asp1540Ala
XM_011514298.1:c.4031A>C	XP_011512600.1:p.Asp1344Ala
XM_011514299.1:c.4163A>C	XP_011512601.1:p.Asp1388Ala
XM_011514300.1:c.3983A>C	XP_011512602.1:p.Asp1328Ala
XM_011514301.1:c.3920A>C	XP_011512603.1:p.Asp1307Ala
XM_011514302.1:c.3764A>C	XP_011512604.1:p.Asp1255Ala
XM_011514299.2:c.4163A>C	XP_011512601.1:p.Asp1388Ala
XM_011514300.2:c.3983A>C	XP_011512602.1:p.Asp1328Ala
XM_011514302.2:c.3764A>C	XP_011512604.1:p.Asp1255Ala
XM_017010250.1:c.4877A>C	XP_016865739.1:p.Asp1626Ala
XM_017010251.2:c.3695A>C	XP_016865740.1:p.Asp1232Ala
NM_080680.3:c.4877A>C MANE Select	NP_542411.2:p.Asp1626Ala
NM_080681.3:c.4619A>C	NP_542412.2:p.Asp1540Ala
NM_080679.3:c.4556A>C	NP_542410.2:p.Asp1519Ala