Canonical Allele Identifier: CA363617621

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164913-A-G
• MyVariant Identifiers: chr6:g.33132690A>G (hg19) ; chr6:g.33164913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164913A>G , CM000668.2:g.33164913A>G	GRCh38
NC_000006.11:g.33132690A>G , CM000668.1:g.33132690A>G	GRCh37
NC_000006.10:g.33240668A>G	NCBI36
NG_011589.1:g.32556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.608T>C
ENST00000341947.7:c.4802T>C MANE Select	ENSP00000339915.2:p.Val1601Ala
ENST00000341947.6:c.4802T>C	ENSP00000339915.2:p.Val1601Ala
ENST00000361917.5:c.4481T>C	ENSP00000355123.1:p.Val1494Ala
ENST00000374708.8:c.4544T>C	ENSP00000363840.4:p.Val1515Ala
ENST00000477772.1:n.592T>C
NM_080679.2:c.4481T>C	NP_542410.2:p.Val1494Ala
NM_080680.2:c.4802T>C	NP_542411.2:p.Val1601Ala
NM_080681.2:c.4544T>C	NP_542412.2:p.Val1515Ala
XM_011514298.1:c.3956T>C	XP_011512600.1:p.Val1319Ala
XM_011514299.1:c.4088T>C	XP_011512601.1:p.Val1363Ala
XM_011514300.1:c.3908T>C	XP_011512602.1:p.Val1303Ala
XM_011514301.1:c.3845T>C	XP_011512603.1:p.Val1282Ala
XM_011514302.1:c.3689T>C	XP_011512604.1:p.Val1230Ala
XM_011514299.2:c.4088T>C	XP_011512601.1:p.Val1363Ala
XM_011514300.2:c.3908T>C	XP_011512602.1:p.Val1303Ala
XM_011514302.2:c.3689T>C	XP_011512604.1:p.Val1230Ala
XM_017010250.1:c.4802T>C	XP_016865739.1:p.Val1601Ala
XM_017010251.2:c.3620T>C	XP_016865740.1:p.Val1207Ala
NM_080680.3:c.4802T>C MANE Select	NP_542411.2:p.Val1601Ala
NM_080681.3:c.4544T>C	NP_542412.2:p.Val1515Ala
NM_080679.3:c.4481T>C	NP_542410.2:p.Val1494Ala