Canonical Allele Identifier: CA375219648

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433482-G-T
• MyVariant Identifiers: chr9:g.133308869G>T (hg19) ; chr9:g.130433482G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433482G>T , CM000671.2:g.130433482G>T	GRCh38
NC_000009.11:g.133308869G>T , CM000671.1:g.133308869G>T	GRCh37
NC_000009.10:g.132298690G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14972G>T	ENSP00000485357.2:p.Gly4991Val
ENST00000683500.2:c.15029G>T MANE Select	ENSP00000508292.2:p.Gly5010Val
ENST00000623487.1:n.3375G>T
ENST00000624552.3:c.14969G>T	ENSP00000485357.1:p.Gly4990Val
NM_001291815.1:c.15029G>T	NP_001278744.1:p.Gly5010Val
XM_011518465.1:c.14906G>T	XP_011516767.1:p.Gly4969Val
XM_011518466.1:c.14897G>T	XP_011516768.1:p.Gly4966Val
XM_011518467.1:c.14852G>T	XP_011516769.1:p.Gly4951Val
NM_001291815.2:c.15029G>T MANE Select	NP_001278744.1:p.Gly5010Val
XM_011518465.2:c.14906G>T	XP_011516767.1:p.Gly4969Val
XM_011518466.2:c.14897G>T	XP_011516768.1:p.Gly4966Val
XM_011518467.2:c.14852G>T	XP_011516769.1:p.Gly4951Val
XM_017014585.1:c.11810G>T	XP_016870074.1:p.Gly3937Val
XM_017014586.1:c.7607G>T	XP_016870075.1:p.Gly2536Val
XR_001746957.1:n.92+139C>A
XR_001746958.1:n.92+139C>A