Canonical Allele Identifier: CA375219362

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308793T>C (hg19) ; chr9:g.130433406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433406T>C , CM000671.2:g.130433406T>C	GRCh38
NC_000009.11:g.133308793T>C , CM000671.1:g.133308793T>C	GRCh37
NC_000009.10:g.132298614T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14896T>C	ENSP00000485357.2:p.Tyr4966His
ENST00000683500.2:c.14953T>C MANE Select	ENSP00000508292.2:p.Tyr4985His
ENST00000623487.1:n.3299T>C
ENST00000624552.3:c.14893T>C	ENSP00000485357.1:p.Tyr4965His
NM_001291815.1:c.14953T>C	NP_001278744.1:p.Tyr4985His
XM_011518465.1:c.14830T>C	XP_011516767.1:p.Tyr4944His
XM_011518466.1:c.14821T>C	XP_011516768.1:p.Tyr4941His
XM_011518467.1:c.14776T>C	XP_011516769.1:p.Tyr4926His
NM_001291815.2:c.14953T>C MANE Select	NP_001278744.1:p.Tyr4985His
XM_011518465.2:c.14830T>C	XP_011516767.1:p.Tyr4944His
XM_011518466.2:c.14821T>C	XP_011516768.1:p.Tyr4941His
XM_011518467.2:c.14776T>C	XP_011516769.1:p.Tyr4926His
XM_017014585.1:c.11734T>C	XP_016870074.1:p.Tyr3912His
XM_017014586.1:c.7531T>C	XP_016870075.1:p.Tyr2511His
XR_001746957.1:n.92+215A>G
XR_001746958.1:n.92+215A>G