Canonical Allele Identifier: CA357404451

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832811C>T (hg19) ; chr4:g.78911657C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911657C>T , CM000666.2:g.78911657C>T	GRCh38
NC_000004.11:g.79832811C>T , CM000666.1:g.79832811C>T	GRCh37
NC_000004.10:g.80051835C>T	NCBI36
NG_047162.1:g.140280C>T
NG_053104.1:g.32782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3110C>T (BMP2K) MANE Select	ENSP00000424668.2:p.Thr1037Ile
ENST00000335016.9:c.3110C>T (BMP2K)	ENSP00000334836.5:p.Thr1037Ile
ENST00000342820.10:c.*782+3553G>A (PAQR3)	ENSP00000344203.6:n.*782+3553G>A
ENST00000502613.1:c.2187C>T (BMP2K)
ENST00000511594.5:c.*532G>A (PAQR3)	ENSP00000425080.1:n.*532G>A
ENST00000512760.5:c.*792+3553G>A (PAQR3)	ENSP00000426875.1:n.*792+3553G>A
ENST00000628286.1:c.*2086C>T (BMP2K)	ENSP00000487317.1:n.*2086C>T
NM_198892.1:c.3110C>T (BMP2K)	NP_942595.1:p.Thr1037Ile
XM_005263117.1:c.2999C>T (BMP2K)	XP_005263174.1:p.Thr1000Ile
XM_011532101.1:c.2870C>T (BMP2K)	XP_011530403.1:p.Thr957Ile
XR_938694.1:n.1118-5496G>A (PAQR3)
XM_017008381.1:c.2870C>T (BMP2K)	XP_016863870.1:p.Thr957Ile
XM_017008382.1:c.2222C>T (BMP2K)	XP_016863871.1:p.Thr741Ile
XR_938694.3:n.1098-5496G>A (PAQR3)
NM_198892.2:c.3110C>T (BMP2K) MANE Select	NP_942595.1:p.Thr1037Ile