Canonical Allele Identifier: CA363617374

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164854-G-T
• MyVariant Identifiers: chr6:g.33132631G>T (hg19) ; chr6:g.33164854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164854G>T , CM000668.2:g.33164854G>T	GRCh38
NC_000006.11:g.33132631G>T , CM000668.1:g.33132631G>T	GRCh37
NC_000006.10:g.33240609G>T	NCBI36
NG_011589.1:g.32615C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.667C>A
ENST00000341947.7:c.4861C>A MANE Select	ENSP00000339915.2:p.Gln1621Lys
ENST00000341947.6:c.4861C>A	ENSP00000339915.2:p.Gln1621Lys
ENST00000361917.5:c.4540C>A	ENSP00000355123.1:p.Gln1514Lys
ENST00000374708.8:c.4603C>A	ENSP00000363840.4:p.Gln1535Lys
ENST00000477772.1:n.651C>A
NM_080679.2:c.4540C>A	NP_542410.2:p.Gln1514Lys
NM_080680.2:c.4861C>A	NP_542411.2:p.Gln1621Lys
NM_080681.2:c.4603C>A	NP_542412.2:p.Gln1535Lys
XM_011514298.1:c.4015C>A	XP_011512600.1:p.Gln1339Lys
XM_011514299.1:c.4147C>A	XP_011512601.1:p.Gln1383Lys
XM_011514300.1:c.3967C>A	XP_011512602.1:p.Gln1323Lys
XM_011514301.1:c.3904C>A	XP_011512603.1:p.Gln1302Lys
XM_011514302.1:c.3748C>A	XP_011512604.1:p.Gln1250Lys
XM_011514299.2:c.4147C>A	XP_011512601.1:p.Gln1383Lys
XM_011514300.2:c.3967C>A	XP_011512602.1:p.Gln1323Lys
XM_011514302.2:c.3748C>A	XP_011512604.1:p.Gln1250Lys
XM_017010250.1:c.4861C>A	XP_016865739.1:p.Gln1621Lys
XM_017010251.2:c.3679C>A	XP_016865740.1:p.Gln1227Lys
NM_080680.3:c.4861C>A MANE Select	NP_542411.2:p.Gln1621Lys
NM_080681.3:c.4603C>A	NP_542412.2:p.Gln1535Lys
NM_080679.3:c.4540C>A	NP_542410.2:p.Gln1514Lys