Canonical Allele Identifier: CA363616221

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164376-G-A
• COSMIC: COSM4497387
• MyVariant Identifiers: chr6:g.33132153G>A (hg19) ; chr6:g.33164376G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164376G>A , CM000668.2:g.33164376G>A	GRCh38
NC_000006.11:g.33132153G>A , CM000668.1:g.33132153G>A	GRCh37
NC_000006.10:g.33240131G>A	NCBI36
NG_011589.1:g.33093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.767C>T
ENST00000341947.7:c.4961C>T MANE Select	ENSP00000339915.2:p.Pro1654Leu
ENST00000341947.6:c.4961C>T	ENSP00000339915.2:p.Pro1654Leu
ENST00000361917.5:c.4640C>T	ENSP00000355123.1:p.Pro1547Leu
ENST00000374708.8:c.4703C>T	ENSP00000363840.4:p.Pro1568Leu
ENST00000477772.1:n.751C>T
NM_080679.2:c.4640C>T	NP_542410.2:p.Pro1547Leu
NM_080680.2:c.4961C>T	NP_542411.2:p.Pro1654Leu
NM_080681.2:c.4703C>T	NP_542412.2:p.Pro1568Leu
XM_011514298.1:c.4115C>T	XP_011512600.1:p.Pro1372Leu
XM_011514299.1:c.4247C>T	XP_011512601.1:p.Pro1416Leu
XM_011514300.1:c.4067C>T	XP_011512602.1:p.Pro1356Leu
XM_011514301.1:c.4004C>T	XP_011512603.1:p.Pro1335Leu
XM_011514302.1:c.3848C>T	XP_011512604.1:p.Pro1283Leu
XM_011514299.2:c.4247C>T	XP_011512601.1:p.Pro1416Leu
XM_011514300.2:c.4067C>T	XP_011512602.1:p.Pro1356Leu
XM_011514302.2:c.3848C>T	XP_011512604.1:p.Pro1283Leu
XM_017010250.1:c.4961C>T	XP_016865739.1:p.Pro1654Leu
XM_017010251.2:c.3779C>T	XP_016865740.1:p.Pro1260Leu
NM_080680.3:c.4961C>T MANE Select	NP_542411.2:p.Pro1654Leu
NM_080681.3:c.4703C>T	NP_542412.2:p.Pro1568Leu
NM_080679.3:c.4640C>T	NP_542410.2:p.Pro1547Leu