Canonical Allele Identifier: CA363616450

Gene: COL11A2

Linked Data

• COSMIC: COSM6360025
• MyVariant Identifiers: chr6:g.33132201G>T (hg19) ; chr6:g.33164424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164424G>T , CM000668.2:g.33164424G>T	GRCh38
NC_000006.11:g.33132201G>T , CM000668.1:g.33132201G>T	GRCh37
NC_000006.10:g.33240179G>T	NCBI36
NG_011589.1:g.33045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.719C>A
ENST00000341947.7:c.4913C>A MANE Select	ENSP00000339915.2:p.Thr1638Asn
ENST00000341947.6:c.4913C>A	ENSP00000339915.2:p.Thr1638Asn
ENST00000361917.5:c.4592C>A	ENSP00000355123.1:p.Thr1531Asn
ENST00000374708.8:c.4655C>A	ENSP00000363840.4:p.Thr1552Asn
ENST00000477772.1:n.703C>A
NM_080679.2:c.4592C>A	NP_542410.2:p.Thr1531Asn
NM_080680.2:c.4913C>A	NP_542411.2:p.Thr1638Asn
NM_080681.2:c.4655C>A	NP_542412.2:p.Thr1552Asn
XM_011514298.1:c.4067C>A	XP_011512600.1:p.Thr1356Asn
XM_011514299.1:c.4199C>A	XP_011512601.1:p.Thr1400Asn
XM_011514300.1:c.4019C>A	XP_011512602.1:p.Thr1340Asn
XM_011514301.1:c.3956C>A	XP_011512603.1:p.Thr1319Asn
XM_011514302.1:c.3800C>A	XP_011512604.1:p.Thr1267Asn
XM_011514299.2:c.4199C>A	XP_011512601.1:p.Thr1400Asn
XM_011514300.2:c.4019C>A	XP_011512602.1:p.Thr1340Asn
XM_011514302.2:c.3800C>A	XP_011512604.1:p.Thr1267Asn
XM_017010250.1:c.4913C>A	XP_016865739.1:p.Thr1638Asn
XM_017010251.2:c.3731C>A	XP_016865740.1:p.Thr1244Asn
NM_080680.3:c.4913C>A MANE Select	NP_542411.2:p.Thr1638Asn
NM_080681.3:c.4655C>A	NP_542412.2:p.Thr1552Asn
NM_080679.3:c.4592C>A	NP_542410.2:p.Thr1531Asn