Canonical Allele Identifier: CA375219311

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308782C>A (hg19) ; chr9:g.130433395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433395C>A , CM000671.2:g.130433395C>A	GRCh38
NC_000009.11:g.133308782C>A , CM000671.1:g.133308782C>A	GRCh37
NC_000009.10:g.132298603C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14885C>A	ENSP00000485357.2:p.Ser4962Tyr
ENST00000683500.2:c.14942C>A MANE Select	ENSP00000508292.2:p.Ser4981Tyr
ENST00000623487.1:n.3288C>A
ENST00000624552.3:c.14882C>A	ENSP00000485357.1:p.Ser4961Tyr
NM_001291815.1:c.14942C>A	NP_001278744.1:p.Ser4981Tyr
XM_011518465.1:c.14819C>A	XP_011516767.1:p.Ser4940Tyr
XM_011518466.1:c.14810C>A	XP_011516768.1:p.Ser4937Tyr
XM_011518467.1:c.14765C>A	XP_011516769.1:p.Ser4922Tyr
NM_001291815.2:c.14942C>A MANE Select	NP_001278744.1:p.Ser4981Tyr
XM_011518465.2:c.14819C>A	XP_011516767.1:p.Ser4940Tyr
XM_011518466.2:c.14810C>A	XP_011516768.1:p.Ser4937Tyr
XM_011518467.2:c.14765C>A	XP_011516769.1:p.Ser4922Tyr
XM_017014585.1:c.11723C>A	XP_016870074.1:p.Ser3908Tyr
XM_017014586.1:c.7520C>A	XP_016870075.1:p.Ser2507Tyr
XR_001746957.1:n.92+226G>T
XR_001746958.1:n.92+226G>T