Canonical Allele Identifier: CA3749958

Gene: COL11A2

Linked Data

• dbSNP Id: rs775496793
• ExAC: 6:33132203 G / A
• gnomAD v2: 6-33132203-G-A
• gnomAD v4: 6-33164426-G-A
• COSMIC: COSM742383
• MyVariant Identifiers: chr6:g.33132203G>A (hg19) ; chr6:g.33164426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164426G>A , CM000668.2:g.33164426G>A	GRCh38
NC_000006.11:g.33132203G>A , CM000668.1:g.33132203G>A	GRCh37
NC_000006.10:g.33240181G>A	NCBI36
NG_011589.1:g.33043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.717C>T
ENST00000341947.7:c.4911C>T MANE Select	ENSP00000339915.2:p.Leu1637=
ENST00000341947.6:c.4911C>T	ENSP00000339915.2:p.Leu1637=
ENST00000361917.5:c.4590C>T	ENSP00000355123.1:p.Leu1530=
ENST00000374708.8:c.4653C>T	ENSP00000363840.4:p.Leu1551=
ENST00000477772.1:n.701C>T
NM_080679.2:c.4590C>T	NP_542410.2:p.Leu1530=
NM_080680.2:c.4911C>T	NP_542411.2:p.Leu1637=
NM_080681.2:c.4653C>T	NP_542412.2:p.Leu1551=
XM_011514298.1:c.4065C>T	XP_011512600.1:p.Leu1355=
XM_011514299.1:c.4197C>T	XP_011512601.1:p.Leu1399=
XM_011514300.1:c.4017C>T	XP_011512602.1:p.Leu1339=
XM_011514301.1:c.3954C>T	XP_011512603.1:p.Leu1318=
XM_011514302.1:c.3798C>T	XP_011512604.1:p.Leu1266=
XM_011514299.2:c.4197C>T	XP_011512601.1:p.Leu1399=
XM_011514300.2:c.4017C>T	XP_011512602.1:p.Leu1339=
XM_011514302.2:c.3798C>T	XP_011512604.1:p.Leu1266=
XM_017010250.1:c.4911C>T	XP_016865739.1:p.Leu1637=
XM_017010251.2:c.3729C>T	XP_016865740.1:p.Leu1243=
NM_080680.3:c.4911C>T MANE Select	NP_542411.2:p.Leu1637=
NM_080681.3:c.4653C>T	NP_542412.2:p.Leu1551=
NM_080679.3:c.4590C>T	NP_542410.2:p.Leu1530=