Canonical Allele Identifier: CA363617395

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132637C>G (hg19) ; chr6:g.33164860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164860C>G , CM000668.2:g.33164860C>G	GRCh38
NC_000006.11:g.33132637C>G , CM000668.1:g.33132637C>G	GRCh37
NC_000006.10:g.33240615C>G	NCBI36
NG_011589.1:g.32609G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.661G>C
ENST00000341947.7:c.4855G>C MANE Select	ENSP00000339915.2:p.Val1619Leu
ENST00000341947.6:c.4855G>C	ENSP00000339915.2:p.Val1619Leu
ENST00000361917.5:c.4534G>C	ENSP00000355123.1:p.Val1512Leu
ENST00000374708.8:c.4597G>C	ENSP00000363840.4:p.Val1533Leu
ENST00000477772.1:n.645G>C
NM_080679.2:c.4534G>C	NP_542410.2:p.Val1512Leu
NM_080680.2:c.4855G>C	NP_542411.2:p.Val1619Leu
NM_080681.2:c.4597G>C	NP_542412.2:p.Val1533Leu
XM_011514298.1:c.4009G>C	XP_011512600.1:p.Val1337Leu
XM_011514299.1:c.4141G>C	XP_011512601.1:p.Val1381Leu
XM_011514300.1:c.3961G>C	XP_011512602.1:p.Val1321Leu
XM_011514301.1:c.3898G>C	XP_011512603.1:p.Val1300Leu
XM_011514302.1:c.3742G>C	XP_011512604.1:p.Val1248Leu
XM_011514299.2:c.4141G>C	XP_011512601.1:p.Val1381Leu
XM_011514300.2:c.3961G>C	XP_011512602.1:p.Val1321Leu
XM_011514302.2:c.3742G>C	XP_011512604.1:p.Val1248Leu
XM_017010250.1:c.4855G>C	XP_016865739.1:p.Val1619Leu
XM_017010251.2:c.3673G>C	XP_016865740.1:p.Val1225Leu
NM_080680.3:c.4855G>C MANE Select	NP_542411.2:p.Val1619Leu
NM_080681.3:c.4597G>C	NP_542412.2:p.Val1533Leu
NM_080679.3:c.4534G>C	NP_542410.2:p.Val1512Leu