Canonical Allele Identifier: CA363616428

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132196G>T (hg19) ; chr6:g.33164419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164419G>T , CM000668.2:g.33164419G>T	GRCh38
NC_000006.11:g.33132196G>T , CM000668.1:g.33132196G>T	GRCh37
NC_000006.10:g.33240174G>T	NCBI36
NG_011589.1:g.33050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.724C>A
ENST00000341947.7:c.4918C>A MANE Select	ENSP00000339915.2:p.Leu1640Met
ENST00000341947.6:c.4918C>A	ENSP00000339915.2:p.Leu1640Met
ENST00000361917.5:c.4597C>A	ENSP00000355123.1:p.Leu1533Met
ENST00000374708.8:c.4660C>A	ENSP00000363840.4:p.Leu1554Met
ENST00000477772.1:n.708C>A
NM_080679.2:c.4597C>A	NP_542410.2:p.Leu1533Met
NM_080680.2:c.4918C>A	NP_542411.2:p.Leu1640Met
NM_080681.2:c.4660C>A	NP_542412.2:p.Leu1554Met
XM_011514298.1:c.4072C>A	XP_011512600.1:p.Leu1358Met
XM_011514299.1:c.4204C>A	XP_011512601.1:p.Leu1402Met
XM_011514300.1:c.4024C>A	XP_011512602.1:p.Leu1342Met
XM_011514301.1:c.3961C>A	XP_011512603.1:p.Leu1321Met
XM_011514302.1:c.3805C>A	XP_011512604.1:p.Leu1269Met
XM_011514299.2:c.4204C>A	XP_011512601.1:p.Leu1402Met
XM_011514300.2:c.4024C>A	XP_011512602.1:p.Leu1342Met
XM_011514302.2:c.3805C>A	XP_011512604.1:p.Leu1269Met
XM_017010250.1:c.4918C>A	XP_016865739.1:p.Leu1640Met
XM_017010251.2:c.3736C>A	XP_016865740.1:p.Leu1246Met
NM_080680.3:c.4918C>A MANE Select	NP_542411.2:p.Leu1640Met
NM_080681.3:c.4660C>A	NP_542412.2:p.Leu1554Met
NM_080679.3:c.4597C>A	NP_542410.2:p.Leu1533Met